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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
hypotrichosis 5
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Muhh2; Marie Unna Hereditary Hypotrichosis 2; Hypt..
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Marie Unna Hereditary Hypotrichosis 2; Muhh2; Hypt5
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A hypotrichosis that has_material_basis_in a mutat.. [+]
A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3.
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hypotrichosis 6
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Monilethrix-like hypotrichosis; autosomal recessiv..
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Monilethrix-like hypotrichosis; autosomal recessive localized hypotrichosis; Hypt6; Lah1; Hypotrichosis, Localized, Autosomal Recessive 1
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A hypotrichosis that has_material_basis_in a autos.. [+]
A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1.
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Warburg micro syndrome 1
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Micro Syndrome 1; WARBM1
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A Warburg micro syndrome that has_material_basis_i.. [+]
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21.
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Warburg micro syndrome 2
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Micro Syndrome 2; WARBM2
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A Warburg micro syndrome that has_material_basis_i.. [+]
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41.
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Warburg micro syndrome 3
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Micro Syndrome 3; WARBM3
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A Warburg micro syndrome that has_material_basis_i.. [+]
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12.
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Warburg micro syndrome 4
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Micro Syndrome 4; WARBM4
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A Warburg micro syndrome that has_material_basis_i.. [+]
A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13.
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neurodegeneration with brain iron accumulation 4
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MPAN; Mitochondrial Protein-Associated Neurodegene..
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MPAN; Mitochondrial Protein-Associated Neurodegeneration; NBIA due to C19orf12 mutation; NBIA4; Neurodegeneration with brain iron accumulation due to C19orf12 mutation; Neurodegeneration with brain iron accumulation type 4
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A neurodegeneration with brain iron accumulation t.. [+]
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12.
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posterior polymorphous corneal dystrophy 1
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Maumenee Corneal Dystrophy; Ched1; Corneal Endothe..
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Maumenee Corneal Dystrophy; Ched1; Corneal Endothelial Dystrophy 1, Autosomal Dominant; Ppcd1
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A posterior polymorphous corneal dystrophy that ha.. [+]
A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
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congenital stationary night blindness 1A
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myopia-night blindness; congenital stationary nigh..
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myopia-night blindness; congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; NBMI; complete CSNB X-linked; hemeralopia-myopia
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A congenital stationary night blindness that has_m.. [+]
A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4.
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adult hypophosphatasia
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mild hypophosphatasia
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A hypophosphatasia that has_material_basis_in a he.. [+]
A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12.
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autosomal recessive osteopetrosis 3
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marble brain disease; autosomal recessive osteopet..
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marble brain disease; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; osteopetrosis with renal tubular acidosis; OPTB3
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21.
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autosomal recessive osteopetrosis 2
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mild autosomal recessive form osteopetrosis; OPTB2..
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mild autosomal recessive form osteopetrosis; OPTB2; osteoclast-poor osteopetrosis
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An osteopetrosis characterized by autosomal recess.. [+]
An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14.
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brachydactyly type A2
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Mohr-Wriedt type brachydactyly; BDA2; brachymesoph..
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Mohr-Wriedt type brachydactyly; BDA2; brachymesophalangy II
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A brachydactyly characterized by autosomal dominan.. [+]
A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12.
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hypermethioninemia due to adenosine kinase deficiency
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MRT8; ADK hypermethioninemia; autosomal recessive ..
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MRT8; ADK hypermethioninemia; autosomal recessive mental retardation 8; hypermethioninemia encephalopathy due to adenosine kinase deficiency; hypermethioninemia encephalopathy due to ADK deficiency
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A hypermethioninemia characterized by autosomal re.. [+]
A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22.
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glycogen storage disease IXd
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muscle phosphorylase kinase deficiency; glycogen s..
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muscle phosphorylase kinase deficiency; glycogen storage disease due to muscle phosphorylase kinase deficiency; glycogen storage disease type 9D; glycogen storage disease type IXd; glycogenosis due to muscle phosphorylase kinase deficiency; glycogenosis type 9D; glycogenosis type IXd; glycogenosis type IXe; GSD IXd; GSD type 9D; GSD type 9E; GSD type IXe; X-linked muscke glycogenosis; glycogen storage disease type 9E; glycogen storage disease type IXe; glycogenosis type 9E; GSD due to muscle phosphorylase kinase deficiency; GSD type IXd; GSD9D
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A glycogen storage disease IX that is characterize.. [+]
A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13.
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hyperphosphatemic familial tumoral calcinosis
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morbus Teutschlaender; cortical hyperostosis with ..
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morbus Teutschlaender; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HHS; hypercalcemic tumoral calcinosis; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; lipocalcinogranulomatosis; PHPTC; primary hyperphosphatemic tumoral calcinosis; HFTC; hyperostosis with hyperphosphatemia; hyperphosphatemia tumoral calcinosis; tumoral calcinosis with hyperphosphatemia
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A calcinosis characterized by autosomal recessive .. [+]
A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene.
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postural orthostatic tachycardia syndrome
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mitral valve prolapse syndrome; familial orthostat..
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mitral valve prolapse syndrome; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency; soldiers heart
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A heart conduction disease characterized by orthos.. [+]
A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2.
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spermatogenic failure 9
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male infertility due to round-headed spermatozoa; ..
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male infertility due to round-headed spermatozoa; male infertility due to globozoospermia; globozoospermia
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A male infertility characterized by round-headed s.. [+]
A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14.
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French Canadian Leigh disease
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mitochondrial complex IV deficiency nuclear type 5..
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mitochondrial complex IV deficiency nuclear type 5; French Canadian type COX deficiency; French Canadian type cytochrome c oxidase deficiency; French Canadian type Leigh syndrome; Saguenay Lac saint Jean type Leigh syndrome; Saguenay Lac saint Jean type COX deficiency
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A cytochrome-c oxidase deficiency disease characte.. [+]
A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21.
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familial hemiplegic migraine 1
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MHP1; familial hemiplegic migraine1 with progressi..
[+]
MHP1; familial hemiplegic migraine1 with progressive cerebellar ataxia; FHM1
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A familial hemiplegic migraine that is commonly as.. [+]
A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13.
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familial hemiplegic migraine 2
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MHP2; Familial hemiplegic migraine-2; FHM2
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A familial hemiplegic migraine that has_material_b.. [+]
A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2.
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familial hemiplegic migraine 3
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MHP3; FHM3
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A familial hemiplegic migraine that has_material_b.. [+]
A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3.
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distal myopathy 3
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MPD3; distal myopathy 3; distal myopathy type 3; d..
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MPD3; distal myopathy 3; distal myopathy type 3; distal muscular dystrophy 3
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A distal myopathy that is characterized by adult o.. [+]
A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.
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distal myopathy 4
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MPD4; distal ABD-filaminopathy; distal myopathy 4; ..
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MPD4; distal ABD-filaminopathy; distal myopathy 4; distal myopathy with posterior leg and anterior hand involvement; distal muscular dystrophy 4
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A distal myopathy that has_material_basis_in heter.. [+]
A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32.
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centronuclear myopathy X-linked
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MTM1; myotubular myopathy 1; CNMX; X-linked myotub..
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myotubular myopathy 1; MTM1; CNMX; X-linked myotubular myopathy; XLCNM; XLMTM
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A centronuclear myopathy that has_material_basis_i.. [+]
A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28.
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congenital muscular dystrophy-dystroglycanopathy type A
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MDDGA; congenital muscular alpha-dystroglycanopath..
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MDDGA; congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; klissencephaly type 2 with muscular and ocular involvement
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.
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congenital muscular dystrophy-dystroglycanopathy type A11
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MDDGA11; congenital muscular dystrophy-dystroglyca..
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MDDGA11; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11; Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
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congenital muscular dystrophy-dystroglycanopathy type A8
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MDDGA8; congenital muscular dystrophy-dystroglycan..
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MDDGA8; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8; Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1.
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congenital muscular dystrophy-dystroglycanopathy type A9
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MDDGA9; congenital muscular dystrophy-dystroglycan..
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MDDGA9; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9; Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.
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congenital muscular dystrophy-dystroglycanopathy A14
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MDDGA14; congenital muscular dystrophy-dystroglyca..
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MDDGA14; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14; Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.
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congenital muscular dystrophy-dystroglycanopathy A7
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MDDGA7; congenital muscular dystrophy-dystroglycan..
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MDDGA7; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.
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congenital muscular dystrophy-dystroglycanopathy type A12
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MDDGA12; congenital muscular dystrophy-dystroglyca..
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MDDGA12; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12; Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
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congenital muscular dystrophy-dystroglycanopathy type A3
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MDDGA3; congenital muscular dystrophy-dystroglycan..
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MDDGA3; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3; Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.
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congenital muscular dystrophy-dystroglycanopathy type A1
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MDDGA1; congenital muscular dystrophy-dystroglycan..
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MDDGA1; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1; Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13.
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congenital muscular dystrophy-dystroglycanopathy type A13
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MDDGA13; congenital muscular dystrophy-dystroglyca..
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MDDGA13; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13; Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related; Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.
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congenital muscular dystrophy-dystroglycanopathy type A10
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MDDGA10; congenital muscular dystrophy-dystroglyca..
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MDDGA10; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10; Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2.
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congenital muscular dystrophy-dystroglycanopathy type A2
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MDDGA2; congenital muscular dystrophy-dystroglycan..
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MDDGA2; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
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congenital muscular dystrophy-dystroglycanopathy type A5
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MDDGA5; congenital muscular dystrophy-dystroglycan..
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MDDGA5; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5; Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.
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congenital muscular dystrophy-dystroglycanopathy type A6
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MDDGA6; congenital muscular dystrophy-dystroglycan..
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MDDGA6; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6; Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
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A congenital muscular dystrophy-dystroglycanopathy.. [+]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.
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postaxial acrofacial dysostosis
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mandibulfacial dysostosis with postaxial limb anom..
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mandibulfacial dysostosis with postaxial limb anomalies; Miller syndrome; acrofacial dysostosis, Genee-Wiedmann type; POADS; Postaxial acrodysostosis
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A syndrome characterized by severe micrognathia, c.. [+]
A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2.
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hyaline body myopathy
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myosin storage myopathy
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A congenital myopathy characterized by accumulatio.. [+]
A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2.
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autosomal recessive hyaline body myopathy
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Myopathy, myosin storage, autosomal recessive; MSM..
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Myopathy, myosin storage, autosomal recessive; MSMB; congenital myopathy 7B
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A hyaline body myopathy that has_material_basis_in.. [+]
A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2.
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autosomal dominant hyaline body myopathy
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Myopathy, myosin storage, autosomal dominant; myop..
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Myopathy, myosin storage, autosomal dominant; myopathy with lysis of type I myofibrils; MSMA; congenital myopathy 7A
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A hyaline body myopathy that has_material_basis_in.. [+]
A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2.
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intellectual disability-severe speech delay-mild dysmorphism syndrome
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Mental retardation with language impairment and wi..
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Mental retardation with language impairment and with or without autistic features; FOXP1 Haploinsufficiency; FOXP1 syndrome; FOXP1-Related Neurodevelopmental Disorder
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A syndromic intellectual disability characterized .. [+]
A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13.
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early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
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Myopathy, areflexia, respiratory distress, and dys..
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Myopathy, areflexia, respiratory distress, and dysphagia, early-onset; EMARDD; congenital myopathy 10A
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A congenital myopathy characterized by proximal an.. [+]
A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.
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congenital leptin deficiency
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morbid obesity; LEPD; obesity due to congenital le..
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morbid obesity; LEPD; obesity due to congenital leptin deficiency; leptin deficiency or dysfunction
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A syndrome characterized by severe early-onset obe.. [+]
A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.
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Vohwinkel syndrome
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Mutilating keratoderma plus deafness; mutilating k..
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Mutilating keratoderma plus deafness; mutilating keratoderma of Vohwinkel; congenital deafness with keratopachydermia and constrictions fo fingers and toes; keratoderma hereditarium mutilans; KHM; VOWNKL; PPK mutilans and deafness
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A syndrome characterized by severe, honeycomb-patt.. [+]
A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11.
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Laurin-Sandrow syndrome
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mirror-image polydactyly; mirror hands and feets-n..
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mirror-image polydactyly; mirror hands and feets-nasal defects syndrome; MIPduplication of fibuland ulna with absence of tibia and radius; miccor hands and feet with nasal defects; Sandrow syndrome; tetramelic mirror-image polydactyly; TMIP
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A dysostosis characterized by polysyndactyly of ha.. [+]
A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3.
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familial progressive hyperpigmentation with or without hypopigmentation
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MUH; melanosis universalis hereditaria; FPHH
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A skin disease characterized by progressive, diffu.. [+]
A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32.
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inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
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multisystem proteinopathy 2; MSP2; IBMPFD2
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An inclusion body myopathy with Paget disease of b.. [+]
An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2.
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